Variant report

Variant	nsv882513
Chromosome Location	chr5:101672238-101746708
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:101707622-101707804	HepG2	liver:	n/a	n/a
2	CEBPB	chr5:101697172-101697382	HepG2	liver:	n/a	chr5:101697241-101697252
3	CEBPB	chr5:101697180-101697573	Hela-S3	cervix:	n/a	chr5:101697241-101697252
4	CEBPB	chr5:101677430-101678074	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr5:101697160-101697335	H1-hESC	embryonic stem cell:	n/a	chr5:101697241-101697252
6	CEBPB	chr5:101697133-101697334	A549	lung:	n/a	chr5:101697241-101697252
7	CEBPB	chr5:101711009-101711381	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr5:101680400-101680550	GM12874	blood:	n/a	n/a
9	CTCF	chr5:101680400-101680550	RPTEC	kidney:	n/a	n/a
10	CTCF	chr5:101713573-101713670	GM10248	blood:	n/a	n/a
11	CTCF	chr5:101682904-101682957	GM10248	blood:	n/a	n/a
12	CTCF	chr5:101721932-101721948	GM10266	blood:	n/a	n/a
13	CTCF	chr5:101675920-101676070	GM12869	blood:	n/a	n/a
14	CTCF	chr5:101680500-101680650	RPTEC	kidney:	n/a	n/a
15	CTCF	chr5:101680427-101680490	GM13977	blood:	n/a	n/a
16	CTCF	chr5:101705640-101705746	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr5:101691750-101691798	Medullo	brain:	n/a	n/a
18	CTCF	chr5:101706800-101706950	AG09309	skin:	n/a	n/a
19	CTCF	chr5:101742844-101742877	GM19239	blood:	n/a	n/a
20	CTCF	chr5:101744660-101744810	AoAF	blood vessel:	n/a	n/a
21	CTCF	chr5:101722500-101722650	GM12869	blood:	n/a	n/a
22	CUX1	chr5:101735662-101735693	GM12878	blood:	n/a	n/a
23	E2F4	chr5:101672740-101672851	MCF10A-Er-Src	breast:	n/a	n/a
24	EP300	chr5:101676659-101678367	SK-N-SH	brain:	n/a	n/a
25	EP300	chr5:101697306-101697564	Hela-S3	cervix:	n/a	chr5:101697421-101697429
26	EP300	chr5:101677481-101678036	SK-N-SH_RA	brain:	n/a	n/a
27	EP300	chr5:101711063-101711367	Hela-S3	cervix:	n/a	n/a
28	EP300	chr5:101677473-101678071	SK-N-SH_RA	brain:	n/a	n/a
29	FAM48A	chr5:101744738-101744882	GM12878	blood:	n/a	n/a
30	FOS	chr5:101716042-101716079	MCF10A-Er-Src	breast:	n/a	chr5:101716057-101716067 chr5:101716056-101716068 chr5:101716058-101716067 chr5:101716058-101716066 chr5:101716059-101716066 chr5:101716057-101716066
31	FOS	chr5:101715881-101716150	MCF10A-Er-Src	breast:	n/a	chr5:101716057-101716067 chr5:101716056-101716068 chr5:101716058-101716067 chr5:101716058-101716066 chr5:101716059-101716066 chr5:101716057-101716066
32	FOS	chr5:101735005-101735205	HUVEC	blood vessel:	n/a	n/a
33	FOS	chr5:101673794-101673994	MCF10A-Er-Src	breast:	n/a	chr5:101673894-101673906 chr5:101673897-101673904 chr5:101673896-101673905 chr5:101673896-101673904 chr5:101673892-101673903 chr5:101673895-101673904 chr5:101673895-101673905
34	FOS	chr5:101677716-101678040	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr5:101715910-101716183	MCF10A-Er-Src	breast:	n/a	chr5:101716057-101716067 chr5:101716056-101716068 chr5:101716058-101716067 chr5:101716058-101716066 chr5:101716059-101716066 chr5:101716057-101716066
36	GATA2	chr5:101677230-101678032	SH-SY5Y	brain:	n/a	n/a
37	GATA3	chr5:101715024-101715281	MCF-7	breast:	n/a	n/a
38	GATA3	chr5:101714878-101715358	MCF-7	breast:	n/a	n/a
39	GATA3	chr5:101677513-101678044	SK-N-SH	brain:	n/a	n/a
40	GATA3	chr5:101677448-101678092	SK-N-SH	brain:	n/a	n/a
41	GATA3	chr5:101677618-101677993	SH-SY5Y	brain:	n/a	n/a
42	GATA3	chr5:101683119-101683293	SH-SY5Y	brain:	n/a	n/a
43	GATA3	chr5:101677534-101678030	MCF-7	breast:	n/a	n/a
44	GATA3	chr5:101741944-101742065	MCF-7	breast:	n/a	n/a
45	JUN	chr5:101724654-101724662	H1-hESC	embryonic stem cell:	n/a	n/a
46	JUND	chr5:101729769-101729795	H1-hESC	embryonic stem cell:	n/a	n/a
47	JUND	chr5:101673790-101673990	HepG2	liver:	n/a	chr5:101673894-101673906 chr5:101673897-101673904 chr5:101673896-101673905 chr5:101673896-101673904 chr5:101673892-101673903 chr5:101673895-101673904 chr5:101673895-101673905 chr5:101673894-101673905
48	JUND	chr5:101715934-101716200	HepG2	liver:	n/a	chr5:101716057-101716067 chr5:101716056-101716068 chr5:101716058-101716067 chr5:101716056-101716067 chr5:101716058-101716066 chr5:101716059-101716066 chr5:101716057-101716066
49	KAP1	chr5:101671742-101672257	K562	blood:	n/a	n/a
50	KAP1	chr5:101720965-101721393	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:101695964..101697659-chr5:101699587..101702225,2	K562	blood:
2	chr5:101721756..101723696-chr5:101735841..101738611,2	MCF-7	breast:
3	chr5:101695964..101697659-chr5:101699587..101702225,2	K562	blood:
4	chr5:101721756..101723696-chr5:101735841..101738611,2	MCF-7	breast:
5	chr5:101725894..101726537-chr6:67534604..67535331,2	MCF-7	breast:
6	chr5:101709356..101712161-chr5:101716526..101719065,2	MCF-7	breast:
7	chr5:101709356..101712161-chr5:101716526..101719065,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLCO4C1-1	chr5:101726685-101726933	NONHSAT103025
2	lnc-SLCO4C1-1	chr5:101724392-101724529	NONHSAT103025
3	lnc-SLCO4C1-1	chr5:101707649-101707775	NONHSAT103025
4	lnc-SLCO4C1-1	chr5:101709041-101709198	NONHSAT103025

Variant related genes	Relation type
SLCO6A1	TF binding region

Extended variants
information (count: 388 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76160979	chr5:101673226-101673227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552161814	chr5:101673268-101673269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556438239	chr5:101673276-101673277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535981106	chr5:101673326-101673327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143256796	chr5:101673366-101673367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370173917	chr5:101673367-101673368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554126901	chr5:101673380-101673381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574835822	chr5:101673433-101673434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112319570	chr5:101673451-101673452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543323323	chr5:101673475-101673476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565200330	chr5:101673553-101673554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7722680	chr5:101673587-101673588	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs560690290	chr5:101673590-101673591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572574970	chr5:101673617-101673618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188937032	chr5:101673655-101673656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559634093	chr5:101673675-101673676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564457580	chr5:101673694-101673695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531715368	chr5:101673701-101673702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35130968	chr5:101673716-101673717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530210490	chr5:101673718-101673719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550244718	chr5:101673719-101673720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116592886	chr5:101673724-101673725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374242854	chr5:101673729-101673730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7702418	chr5:101673766-101673767	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs563513560	chr5:101673770-101673771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547376027	chr5:101673779-101673780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565837307	chr5:101673916-101673917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539269848	chr5:101673927-101673928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74598846	chr5:101673946-101673947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557841716	chr5:101674071-101674072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569461097	chr5:101674104-101674105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536642494	chr5:101674129-101674130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554903237	chr5:101674189-101674190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142310610	chr5:101674223-101674224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181671198	chr5:101674298-101674299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377000989	chr5:101674484-101674485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572585432	chr5:101674526-101674527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185624008	chr5:101674528-101674529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564601268	chr5:101674549-101674550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552563999	chr5:101674566-101674567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188816497	chr5:101674619-101674620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543942467	chr5:101674633-101674634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180864678	chr5:101674636-101674637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571123928	chr5:101674650-101674651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547633905	chr5:101674688-101674689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186148249	chr5:101674712-101674713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533151758	chr5:101674740-101674741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541076603	chr5:101674758-101674759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551329348	chr5:101674777-101674778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528803401	chr5:101674843-101674844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101673200-101673800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:101673800-101676800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:101675400-101676800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:101676600-101678000	Enhancers	Fetal Muscle Leg	muscle
5	chr5:101676800-101677000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:101676800-101678000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:101676800-101678200	Enhancers	Brain Germinal Matrix	brain
8	chr5:101676800-101678200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr5:101677000-101677400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:101677000-101678000	Enhancers	Fetal Lung	lung
11	chr5:101677000-101678400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:101677200-101678000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:101677200-101678200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr5:101677400-101678000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:101677400-101678000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:101677400-101678200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr5:101677600-101677800	Enhancers	Psoas Muscle	Psoas
18	chr5:101678000-101679000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:101679000-101679200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:101685200-101685800	Active TSS	Fetal Heart	heart
21	chr5:101710600-101711000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:101710800-101711200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:101711000-101711200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:101711000-101711800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:101711000-101711800	Active TSS	Aorta	Aorta
26	chr5:101711200-101711800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:101722000-101722200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:101742800-101743000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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